Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital stationary night blindness 1B
go back to main search page
Accession:DOID:0110865 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: CSNB, COMPLETE, AUTOSOMAL RECESSIVE;   CSNB1B;   congenital stationary night blindness 1B autosomal recessive;   congenital stationary night blindness, complete, autosomal recessive;   congenital stationary night blindness, type 1B
 primary_id: OMIM:257270
 alt_id: RDO:0008418
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital stationary night blindness 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1B
ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:257270
OMIM
ClinVar
PMID:11874764 PMID:15781871 PMID:16249515 PMID:17405131 PMID:19666700 PMID:19862333 PMID:22008250 PMID:22735794 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30718709 NCBI chr10:36,345,503...36,363,416
Ensembl chr10:36,345,939...36,360,665
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital stationary night blindness 25
        congenital stationary night blindness 1B 3
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          eye disease 2673
            Vision Disorders 158
              night blindness 31
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    congenital stationary night blindness 1B 3
paths to the root